Unverricht–Lundborg disease

From WikiMD's medical encyclopedia

Unverricht–Lundborg disease (ULD), also known as Baltic myoclonus, is a type of progressive myoclonus epilepsy (PME). It is a rare, inherited neurodegenerative disorder characterized by myoclonus, epileptic seizures, and a progressive decline in motor skills. The disease was first described by Heinrich Unverricht in 1891 and later by Herman Bernhard Lundborg in 1901.

Symptoms

The primary symptoms of Unverricht–Lundborg disease include:

  • Myoclonus: Sudden, involuntary muscle jerks that can be triggered by physical activity, stress, or sensory stimuli.
  • Epileptic seizures: Generalized tonic-clonic seizures are common.
  • Ataxia: Loss of coordination and balance.
  • Dysarthria: Difficulty in articulating words due to muscle weakness.
  • Cognitive decline: Progressive deterioration in cognitive functions.

Genetics

Unverricht–Lundborg disease is caused by mutations in the CSTB gene, which encodes the cystatin B protein. This gene is located on chromosome 21. The disease is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to develop the disorder.

Diagnosis

Diagnosis of Unverricht–Lundborg disease typically involves:

Treatment

There is no cure for Unverricht–Lundborg disease, but treatment focuses on managing symptoms. Common treatments include:

Prognosis

The progression of Unverricht–Lundborg disease varies among individuals. While the disease is progressive, many patients can live into adulthood with appropriate management of symptoms. However, the quality of life may be significantly affected due to the severity of myoclonus and seizures.

Related Pages

See Also

References



External Links


   This article is a  stub. You can help WikiMD by expanding it!



Navigation: Wellness - Encyclopedia - Health topics - Disease Index‏‎ - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes

Transform your life with W8MD's budget GLP-1 injections from $125.

W8mdlogo.png
W8MD weight loss doctors team

W8MD offers a medical weight loss program to lose weight in Philadelphia. Our physician-supervised medical weight loss provides:

NYC weight loss doctor appointments

Start your NYC weight loss journey today at our NYC medical weight loss and Philadelphia medical weight loss clinics.

Linkedin_Shiny_Icon Facebook_Shiny_Icon YouTube_icon_(2011-2013) Google plus


Advertise on WikiMD

WikiMD's Wellness Encyclopedia

Let Food Be Thy Medicine
Medicine Thy Food - Hippocrates

Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates, categories Wikipedia, licensed under CC BY SA or similar.

Contributors: Prab R. Tumpati, MD